Article
A novel synonymous mutation in the MPZ gene causing an aberrant splicing pattern and Charcot-Marie-Tooth disease type 1b.
Neuromuscular disorders : NMD - 1 Aug 2016
Corrado L, Magri S, Bagarotti A, Carecchio M, Piscosquito G, Pareyson D, Varrasi C, Vecchio D, Zonta A, Cantello R, Taroni F, D'Alfonso S
Abstract excerpt
Charcot-Marie-Tooth disease (CMT) is an inherited peripheral neuropathy with a heterogeneous genetic background. Here, we describe two CMT1B families with a mild sensory-motor neuropathy and a novel synonymous variant (c.309G > T, p.G103G) in exon 3 of the MPZ gene. Next generation sequencing analysis on a 94 CMT gene panel showed no mutations in other disease genes. In vitro splicing assay and mRNA expression...
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